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预测、预防和精准医学策略在癫痫中的影响。

Impact of predictive, preventive and precision medicine strategies in epilepsy.

作者信息

Nabbout Rima, Kuchenbuch Mathieu

机构信息

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades University hospital, Université de Paris, Paris, France.

Institut National de la Santé et de la Recherche Médicale (INSERM), UMR 1163, Imagine Institute, Université de Paris, Paris, France.

出版信息

Nat Rev Neurol. 2020 Dec;16(12):674-688. doi: 10.1038/s41582-020-0409-4. Epub 2020 Oct 19.

DOI:10.1038/s41582-020-0409-4
PMID:33077944
Abstract

Over the last decade, advances in genetics, neuroimaging and EEG have enabled the aetiology of epilepsy to be identified earlier in the disease course than ever before. At the same time, progress in the study of experimental models of epilepsy has provided a better understanding of the mechanisms underlying the condition and has enabled the identification of therapies that target specific aetiologies. We are now witnessing the impact of these advances in our daily clinical practice. Thus, now is the time for a paradigm shift in epilepsy treatment from a reactive attitude, treating patients after the onset of epilepsy and the initiation of seizures, to a proactive attitude that is more broadly integrated into a 'P4 medicine' approach. This P4 approach, which is personalized, predictive, preventive and participatory, puts patients at the centre of their own care and, ultimately, aims to prevent the onset of epilepsy. This aim will be achieved by adapting epilepsy treatments not only to a given syndrome but also to a given patient and moving from the usual anti-seizure treatments to personalized treatments designed to target specific aetiologies. In this Review, we present the current state of this ongoing revolution, emphasizing the impact on clinical practice.

摘要

在过去十年中,遗传学、神经影像学和脑电图技术的进步使癫痫的病因能够在疾病进程中比以往更早地被识别出来。与此同时,癫痫实验模型研究的进展让人们对该病症的潜在机制有了更好的理解,并使针对特定病因的治疗方法得以确定。我们现在正在日常临床实践中见证这些进展所带来的影响。因此,现在是时候让癫痫治疗从发作后和癫痫发作开始后才治疗患者的被动态度,转变为更广泛地融入“4P医学”方法的主动态度了。这种个性化、预测性、预防性和参与性的4P方法将患者置于自身护理的中心,最终目标是预防癫痫发作。通过使癫痫治疗不仅适应特定综合征,还适应特定患者,并从常规的抗癫痫发作治疗转向旨在针对特定病因的个性化治疗,这一目标将得以实现。在本综述中,我们介绍了这场正在进行的革命的现状,强调其对临床实践的影响。

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